SOD1 D91A variant in the southernmost tip of Europe: a heterozygous ALS patient resident on the island of Gozo.

Autor: Farrugia Wismayer M; Centre for Molecular Medicine and Biobanking, Biomedical Sciences Building, University of Malta, Msida, Malta.; Department of Physiology and Biochemistry, Faculty of Medicine and Surgery, University of Malta, Msida, Malta., Farrugia Wismayer A; Centre for Molecular Medicine and Biobanking, Biomedical Sciences Building, University of Malta, Msida, Malta., Pace A; Department of Neurology, Gozo General Hospital, Victoria, Gozo, Malta., Vassallo N; Centre for Molecular Medicine and Biobanking, Biomedical Sciences Building, University of Malta, Msida, Malta.; Department of Physiology and Biochemistry, Faculty of Medicine and Surgery, University of Malta, Msida, Malta., Cauchi RJ; Centre for Molecular Medicine and Biobanking, Biomedical Sciences Building, University of Malta, Msida, Malta. ruben.cauchi@um.edu.mt.; Department of Physiology and Biochemistry, Faculty of Medicine and Surgery, University of Malta, Msida, Malta. ruben.cauchi@um.edu.mt.
Jazyk: angličtina
Zdroj: European journal of human genetics : EJHG [Eur J Hum Genet] 2022 Jul; Vol. 30 (7), pp. 856-859. Date of Electronic Publication: 2021 Oct 07.
DOI: 10.1038/s41431-021-00975-x
Abstrakt: Amyotrophic lateral sclerosis (ALS) is frequently caused by mutations in the SOD1 gene. Here, we report the first SOD1 variant in Malta, an archipelago of three inhabited islands in southern Europe. We describe a patient with a sporadic form of ALS living on the island of Gozo in which the heterozygous SOD1 c.272A>C; p.(Asp91Ala) variant was detected. The patient had a late onset (79 years), sensory impairments and rapid disease progression culminating in respiratory failure. ALS has not yet developed in any of the three additional family members in which the D91A variant was identified. None of the healthy controls from the Maltese population were found to carry this variant. This report underscores the high prevalence of the D91A variant in Europe, despite the presence of a North-South gradient in its frequency, and confirms that this variant can be associated with dominant cases in Mediterranean countries.
(© 2021. The Author(s).)
Databáze: MEDLINE
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